9-94456060-C-T

Position:

• chr9-94456060-C-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_032558.3(MFSD14B):​c.1029-180C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.508 in 151,830 control chromosomes in the GnomAD database, including 19,775 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.51 (19775 hom., cov: 31)
• Consequence: MFSD14B NM_032558.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.180

Genes affected

MFSD14B (HGNC:23376): (major facilitator superfamily domain containing 14B) Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.593 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
MFSD14B	NM_032558.3	c.1029-180C>T		intron_variant		ENST00000375344.8

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
MFSD14B	ENST00000375344.8	c.1029-180C>T		intron_variant		1	NM_032558.3	P1

Frequencies

GnomAD3 genomes AF: 0.508 AC: 77006 AN: 151710 Hom.: 19747 Cov.: 31

Gnomad AFR AF: 0.535

Gnomad AMI AF: 0.557

Gnomad AMR AF: 0.603

Gnomad ASJ AF: 0.553

Gnomad EAS AF: 0.401

Gnomad SAS AF: 0.506

Gnomad FIN AF: 0.515

Gnomad MID AF: 0.529

Gnomad NFE AF: 0.473

Gnomad OTH AF: 0.513

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.508 AC: 77089 AN: 151830 Hom.: 19775 Cov.: 31 AF XY: 0.514 AC XY: 38116 AN XY: 74180

Gnomad4 AFR AF: 0.535

Gnomad4 AMR AF: 0.603

Gnomad4 ASJ AF: 0.553

Gnomad4 EAS AF: 0.401

Gnomad4 SAS AF: 0.507

Gnomad4 FIN AF: 0.515

Gnomad4 NFE AF: 0.473

Gnomad4 OTH AF: 0.509

Alfa AF: 0.460 Hom.: 7069

Bravo AF: 0.518

Asia WGS AF: 0.482 AC: 1679 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	2.2
DANN	Benign	0.23

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs2277182; hg19: chr9-97218342;